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Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.
Diagn Pathol 2011; 6:42DP

Abstract

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Hunter disease can vary from mild to severe, depending on the level of enzyme deficiency. We report the IDS mutation and polymorphisms causing the Hunter syndrome in patients from one family in Tunisia

PATIENTS AND METHODS

A preliminary diagnosis was made by qualitative detection of urinary glycosaminoglycans of the suspected MPS II probands. The IDS mutation and polymorphisms were determined on these probands and their family members by amplifying and sequencing each of the exons and intron-exon junctions of IDS gene.

RESULTS

The studied probands were homoallelic for p.R88P mutation. In addition, three known polymorphisms/sequence variants: IVS3-16 (c.419-16 delT), T214M (c.641C > T), T146T (c.438 C > T), IVS5-87(c.709-87G > A) and one previously unknown: IVS7+38(c.1006+38T > C were identified in the MPS II patients. These are the first Tunisian MPS II patients to be genotyped.

CONCLUSION

The identification of these mutation and polymorphisms and their genotype-phenotype correlation should facilitate prenatal diagnosis and counseling for MPS II in Tunisia, where a very high rate of consanguinity exists.

Authors+Show Affiliations

Biochemistry Laboratory Farhat Hached Hospital, 4000 Sousse, Tunisia. chkioualatifa2002@yahoo.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21605424

Citation

Chkioua, Latifa, et al. "Molecular Analysis of Iduronate -2- Sulfatase Gene in Tunisian Patients With Mucopolysaccharidosis Type II." Diagnostic Pathology, vol. 6, 2011, p. 42.
Chkioua L, Khedhiri S, Ferchichi S, et al. Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II. Diagn Pathol. 2011;6:42.
Chkioua, L., Khedhiri, S., Ferchichi, S., Tcheng, R., Chahed, H., Froissart, R., ... Miled, A. (2011). Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II. Diagnostic Pathology, 6, p. 42. doi:10.1186/1746-1596-6-42.
Chkioua L, et al. Molecular Analysis of Iduronate -2- Sulfatase Gene in Tunisian Patients With Mucopolysaccharidosis Type II. Diagn Pathol. 2011 May 23;6:42. PubMed PMID: 21605424.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II. AU - Chkioua,Latifa, AU - Khedhiri,Souhir, AU - Ferchichi,Salima, AU - Tcheng,Rémy, AU - Chahed,Henda, AU - Froissart,Roseline, AU - Vianey-Saban,Christine, AU - Laradi,Sandrine, AU - Miled,Abdelhedi, Y1 - 2011/05/23/ PY - 2011/04/04/received PY - 2011/05/23/accepted PY - 2011/5/25/entrez PY - 2011/5/25/pubmed PY - 2011/9/23/medline SP - 42 EP - 42 JF - Diagnostic pathology JO - Diagn Pathol VL - 6 N2 - UNLABELLED: Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Hunter disease can vary from mild to severe, depending on the level of enzyme deficiency. We report the IDS mutation and polymorphisms causing the Hunter syndrome in patients from one family in Tunisia PATIENTS AND METHODS: A preliminary diagnosis was made by qualitative detection of urinary glycosaminoglycans of the suspected MPS II probands. The IDS mutation and polymorphisms were determined on these probands and their family members by amplifying and sequencing each of the exons and intron-exon junctions of IDS gene. RESULTS: The studied probands were homoallelic for p.R88P mutation. In addition, three known polymorphisms/sequence variants: IVS3-16 (c.419-16 delT), T214M (c.641C > T), T146T (c.438 C > T), IVS5-87(c.709-87G > A) and one previously unknown: IVS7+38(c.1006+38T > C were identified in the MPS II patients. These are the first Tunisian MPS II patients to be genotyped. CONCLUSION: The identification of these mutation and polymorphisms and their genotype-phenotype correlation should facilitate prenatal diagnosis and counseling for MPS II in Tunisia, where a very high rate of consanguinity exists. SN - 1746-1596 UR - https://www.unboundmedicine.com/medline/citation/21605424/Molecular_analysis_of_iduronate__2__sulfatase_gene_in_Tunisian_patients_with_mucopolysaccharidosis_type_II_ L2 - https://diagnosticpathology.biomedcentral.com/articles/10.1186/1746-1596-6-42 DB - PRIME DP - Unbound Medicine ER -